Hereditary disorder of musculoskeletal system   363212003

SNOMED CT code


SNOMED code363212003
nameHereditary disorder of musculoskeletal system
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary disorder of musculoskeletal system (disorder)
synonymsHereditary disorder of musculoskeletal system
attributes - group1
Finding siteMusculoskeletal structure   26107004
parents
  • Hereditary disorder by system   363137000
  • Disorder of musculoskeletal system   928000
children
  • 3-M syndrome   702342007
  • 46,XX disorder of sex development with skeletal anomalies syndrome   733621007
  • 8q13 microdeletion syndrome   724147004
  • 8q24.3 microdeletion syndrome   1229895008
  • Aase Smith type 1 syndrome   718576001
  • Absent radius, anogenital anomalies syndrome   771264005
  • Absent thumb with short stature and immunodeficiency syndrome   719685004
  • Absent tibia, polydactyly, arachnoid cyst syndrome   733068001
  • Achondroplasia   86268005
  • Acrocapitofemoral dysplasia   720416007
  • Acrocephalopolysyndactyly type II   403767009
  • Acrocephalopolysyndactyly type IV   733425005
  • Acrocephalosyndactyly (Apert)   205258009
  • Acrocephalosyndactyly type V   70410008
  • Acrocraniofacial dysostosis   720418008
  • Acrodysostosis   66758006
  • Acrofacial dysostosis Catania type   720419000
  • Acrofacial dysostosis Kennedy Teebi type   720427009
  • Acrofacial dysostosis Palagonia type   720429007
  • Acrofacial dysostosis Rodriguez type   720430002
  • Acrofrontofacionasal dysostosis   720408003
  • Acrofrontofacionasal dysostosis type 2   721835008
  • Acromesomelic dysplasia Hunter-Thompson type   389167007
  • Acromesomelic dysplasia Maroteaux type   718559000
  • Acromicric dysplasia   254090007
  • Acropectoral syndrome   720412009
  • Acropectorovertebral dysplasia   720457000
  • Acrorenal mandibular syndrome   720414005
  • Acrorenoocular syndrome   720415006
  • Actin accumulation myopathy   702349003
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy   725464001
  • Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency   733599009
  • Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome   722281001
  • Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008
  • Agnathia, holoprosencephaly, situs inversus syndrome   722283003
  • Allan-Herndon-Dudley syndrome   702327009
  • Alpha-B crystallin-related late-onset myopathy   783770002
  • Amish nemaline myopathy   1197155007
  • Amyotonia congenita   63135006
  • Andersen Tawil syndrome   422348008
  • Aneurysm osteoarthritis syndrome   785808002
  • Angel-shaped phalangoepiphyseal dysplasia   720984008
  • Aniridia and absent patella syndrome   720467005
  • Ankylosing vertebral hyperostosis with tylosis syndrome   720492008
  • Anterior maxillary protrusion, strabismus, intellectual disability syndrome   1222706005
  • Antley-Bixler syndrome   62964007
  • Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006
  • Arthrogryposis and ectodermal dysplasia syndrome   786039009
  • Aspartylglucosaminuria   54954004
  • Asymmetric crying face association   51409009
  • Atelosteogenesis   43814000
  • Auriculo-condylar syndrome   702443003
  • Autoimmune interstitial lung disease, arthritis syndrome   1222679006
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis   829973009
  • Autosomal dominant centronuclear myopathy   716696006
  • Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation   1202024009
  • Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome   1179294000
  • Autosomal dominant hypophosphatemic bone disease   237890006
  • Autosomal dominant mandibular prognathism   778069004
  • Autosomal dominant mitochondrial myopathy with exercise intolerance   1222644009
  • Autosomal dominant myoglobinuria   725903003
  • Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome   1229999001
  • Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome   1187115008
  • Autosomal dominant progressive external ophthalmoplegia   827115000
  • Autosomal dominant spondylocostal dysostosis   716232002
  • Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation   1202025005
  • Autosomal recessive cutis laxa type 2A   784381008
  • Autosomal recessive cutis laxa type 2B   778068007
  • Autosomal recessive distal osteolysis syndrome   715487005
  • Autosomal recessive hypophosphatemic bone disease   237891005
  • Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy   1222704008
  • Autosomal recessive lower motor neuron disease with childhood onset   771302009
  • Autosomal recessive progressive external ophthalmoplegia   827117008
  • Ballard syndrome   722298001
  • Baller-Gerold syndrome   77608001
  • Banki syndrome   733093004
  • Benign congenital myopathy   193222002
  • Blomstrand dysplasia   389237009
  • Blount disease   880067009
  • Bone dysplasia Azouz type   720566004  removed: 2019-07-31
  • Bone dysplasia lethal Holmgren type   732249002
  • Brachydactyly and arterial hypertension syndrome   720568003
  • Brachydactyly and distal symphalangism syndrome   732956000
  • Brachydactyly and preaxial hallux varus syndrome   732957009
  • Brachydactyly syndrome type B   389168002
  • Brachydactyly type A1   715720006
  • Brachydactyly type A3   890438002
  • Brachydactyly type A4   715721005
  • Brachydactyly type A6   715722003
  • Brachydactyly type B2   770406002
  • Brachydactyly type D   890439005
  • Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000
  • Brachyolmia   254088006
  • Brachyolmia type 1 Toledo type   715671000  removed: 2019-07-31
  • Brachytelephalangic chondrodysplasia punctata   778067002
  • Branchiooculofacial syndrome   449821007
  • Brody myopathy   703530005
  • BSG syndrome   719097002
  • Campomelia Cumming type   720599002
  • Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000
  • Camptodactyly syndrome Guadalajara type 1   720602007
  • Camptodactyly syndrome Guadalajara type 2   720603002
  • Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome   720600004
  • Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome   771187008
  • Cap myopathy   703532002
  • Cardiocranial syndrome Pfeiffer type   720606005
  • Cardiomyopathy with cataract and hip spine disease syndrome   720609003
  • Cardiospondylocarpofacial syndrome   720612000
  • Carpotarsal osteochondromatosis   389272007
  • Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome   1220595008
  • Catel Manzke syndrome   722383001
  • Caveolin 3 related distal myopathy   711265009
  • Central core disease   43152001
  • Cerebro-facio-thoracic dysplasia   720635002
  • Cerebrofacioarticular syndrome   763353000
  • Childhood-onset autosomal recessive myopathy with external ophthalmoplegia   787172004
  • Childhood-onset nemaline myopathy   1197154006
  • Childhood-onset spasticity with hyperglycinemia   773492007
  • Chitty Hall Baraitser syndrome   716238003
  • Choanal atresia with radial ray hypoplasia   232373003
  • Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005
  • Chondrodysplasia punctata Toriello type   715631005
  • Chondrodysplasia punctata, Conradi-Hünermann type   22932004  removed: 2003-07-31
  • Chondrodysplasia punctata, X-linked dominant type   398958000
  • Chondrodysplasia punctata, X-linked recessive type   254082007
  • Chondrodysplasia with disorder of sex development syndrome   720851007
  • Chondrodysplasia with joint dislocations gPAPP type   782882009
  • Cleft palate with short stature and vertebral anomaly syndrome   719466009
  • Cleidocranial dysostosis   65976001
  • Cleidorhizomelic syndrome   719471002
  • Cloverleaf skull with multiple congenital anomalies syndrome   717771007
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005
  • Combined deficiency of sialidase AND beta galactosidase   35691006
  • Combined immunodeficiency with faciooculoskeletal anomalies syndrome   770625006
  • Combined oxidative phosphorylation defect type 30   1172841001
  • Combined oxidative phosphorylation defect type 39   1279845005
  • Complex lethal osteochondrodysplasia   1228858000
  • Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome   717812000
  • Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005
  • Congenital dystrophia brevicollis   388981000
  • Congenital fiber-type disproportion myopathy due to ACTA1 mutation   1208413008
  • Congenital fiber-type disproportion myopathy due to MYH7 mutation   1209168005
  • Congenital fiber-type disproportion myopathy due to TPM3 mutation   1208416000
  • Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008
  • Congenital hypoplasia of ulna and intellectual disability syndrome   719842006
  • Congenital hypoplasia of ulna and split foot syndrome   733030003
  • Congenital insensitivity to pain, anosmia, neuropathic arthropathy   1279831004
  • Congenital lethal myopathy Compton North type   773306002
  • Congenital myopathy with internal nuclei and atypical cores   764945007
  • Congenital myopathy with myasthenic-like onset   763315005
  • Congenital myopathy with reduced type 2 muscle fibers   1255274002
  • Congenital myotonia, autosomal dominant form   57938005
  • Congenital myotonia, autosomal recessive form   20305008
  • Congenital short costocoracoid ligament   725101002
  • Congenital vertebral, cardiac, renal anomalies syndrome   1260142000
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency   763318007
  • Cono-spondylar dysplasia   766874001
  • Contracture with ectodermal dysplasia and orofacial cleft syndrome   720746006
  • Coxoauricular syndrome   732248005
  • Coxopodopatellar syndrome   720752007
  • Craniodiaphyseal dysplasia   205506004
  • Craniofacial conodysplasia syndrome   720754008
  • Craniofacial dysplasia osteopenia syndrome   773622005
  • Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome   1217229007
  • Craniofacial dyssynostosis syndrome   720755009
  • Craniofrontonasal dysplasia   715421009
  • Craniolenticulosutural dysplasia   725100001
  • Craniomicromelic syndrome   725098001
  • Cranioosteoarthropathy   720753002
  • Craniosynostosis and dental anomalies syndrome   773332008
  • Craniosynostosis and intracranial calcification syndrome   720816004
  • Craniosynostosis Boston type   720817008
  • Craniosynostosis fibular aplasia syndrome   732250002
  • Craniosynostosis Philadelphia type   720818003
  • Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome   720813007
  • Craniosynostosis with facial dysmorphism and brachydactyly syndrome   720814001  removed: 2019-07-31
  • Craniosynostosis, anal anomaly, porokeratosis syndrome   720812002
  • Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009
  • Crisponi syndrome   725097006
  • Crouzon syndrome   28861008
  • Cryptomicrotia brachydactyly syndrome   725096002
  • Curry-Hall syndrome   277807007
  • Cutis gyrata syndrome of Beare and Stevenson   703528008
  • Cutis laxa, x-linked   59399004
  • Cyprus facial neuromusculoskeletal syndrome   732261005
  • Cystinuria, type 1   37183000
  • Czech dysplasia metatarsal type   720826006
  • Dacryocystitis and osteopoikilosis syndrome   721082002
  • de Barsey syndrome   59252009
  • Deafness, encephaloneuropathy, obesity, valvulopathy syndrome   763688008
  • Dermatoosteolysis Kirghizian type   721090002
  • Desbuquois syndrome   254099008
  • Desmin-related myofibrillar myopathy   770627003
  • Desmosterolosis   709490002
  • Diaphanospondylodysostosis   721094006
  • Diaphragmatic defect, limb deficiency, skull defect syndrome   721095007
  • Diaphyseal dysplasia   34643004
  • Diaphyseal medullary stenosis with bone malignancy   389216001
  • Diastrophic dysplasia   58561002
  • Digital extensor muscle aplasia with polyneuropathy   771261002
  • Dislocation of hip and facial dysmorphism syndrome   763755009
  • Disorder of skeletal system co-occurrent and due to Marfan syndrome   16052791000119105
  • Distal limb deficiency with micrognathia syndrome   722429003
  • DK phocomelia syndrome   719021005
  • DNA2-related mitochondrial DNA deletion syndrome   783057002
  • DONSON-related microcephaly, short stature, limb abnormalities spectrum   1236845001
  • DOORS syndrome   719800009
  • Doughnut lesion of calvaria and bone fragility syndrome   720598005
  • Duane anomaly, myopathy, scoliosis syndrome   722432000
  • Dyggve-Melchior-Clausen syndrome   82699004
  • Dyschondrosteosis and nephritis syndrome   722433005
  • Dysmorphic sialidosis, infantile form   51984006
  • Dysplasia epiphysealis hemimelica   205480005
  • Dyssegmental dysplasia Silverman Handmaker type   765204000
  • Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007
  • Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002
  • Ectrodactyly polydactyly syndrome   771177009
  • Ehlers-Danlos and osteogenesis imperfecta syndrome   733457006
  • Ehlers-Danlos syndrome   398114001
  • Endocrine-cerebro-osteodysplasia syndrome   723309006
  • Enlarged parietal foramina   718099006
  • Epilepsy, microcephaly, skeletal dysplasia syndrome   733031004
  • EVEN-plus syndrome   1260203008
  • Exostosis, anetoderma, brachydactyly type E syndrome   733416004
  • Extensor tendons of finger anomalies   782937006
  • External auditory canal atresia, vertical talus, hypertelorism syndrome   783774006
  • Eye defects, arachnodactyly, cardiopathy syndrome   1208342001
  • Familial articular hypermobility syndrome   71322004
  • Familial avascular necrosis of femoral head   715657008
  • Familial calcium pyrophosphate dihydrate crystal deposition disease   1162808000
  • Familial chondromalacia of patella   726628003
  • Familial digital arthropathy and brachydactyly syndrome   717192003
  • Familial dyskinesia and facial myokymia   763352005
  • Familial gigantiform cementoma of jaw   1263445009
  • Familial hypokalemic periodic paralysis   82732003
  • Familial osteochondritis dissecans   715899006
  • Familial scaphocephaly syndrome McGillivray type   725030006
  • Familial Scheuermann disease   725411000
  • Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004
  • FASTKD2-related infantile mitochondrial encephalomyopathy   778029000
  • Fatal infantile hypertonic myofibrillar myopathy   782883004
  • FGFR2-related bent bone dysplasia   778008009
  • Fibrochondrogenesis   17144009
  • Fibular aplasia and complex brachydactyly   715474004
  • Fibular aplasia and ectrodactyly syndrome   720952001
  • Filippi syndrome   720954000
  • Fine Lubinsky syndrome   720955004
  • Floating-Harbor syndrome   312214005
  • Fountain syndrome   720957007
  • Francois syndrome   254150007
  • Frank-Ter Haar syndrome   720958002
  • Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001
  • Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome   773628009
  • Frontorhiny   1230021007
  • Fryns syndrome   702432006
  • Fuhrmann syndrome   721296004
  • Genetically determined myasthenia   230669004
  • Genochondromatosis type 1   1003427004
  • Genochondromatosis type 2   725904009
  • Geroderma osteodysplastica   254116003
  • Ghosal hematodiaphyseal dysplasia   389214003
  • Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004
  • Glycogen storage disease, muscular form   15978003
  • Glycogen synthase deficiency   237964009
  • GM1 gangliosidosis   238025006
  • Gnathodiaphyseal dysplasia   715568002
  • Goldblatt syndrome   717823001
  • Goldenhar syndrome   205418005
  • Gollop syndrome   716022002
  • Gollop Wolfgang complex   716006003
  • Grant syndrome   723827003
  • Granulomatous inflammatory arthritis, dermatitis and uveitis, familial   699861000
  • Grebe syndrome   77542002
  • Guttmacher syndrome   722452004
  • Hallux varus, preaxial polysyndactyly syndrome   771180005
  • Haspeslagh Fryns Muelenaere syndrome   716090004
  • Heart defect and limb shortening syndrome   721009008
  • Heart-hand syndrome Slovenian type   721014007
  • Heide syndrome   716189005
  • Hereditary acroosteolysis   254148004
  • Hereditary arterial and articular multiple calcification syndrome   718602007
  • Hereditary camptodactyly   238855000
  • Hereditary continuous muscle fiber activity   1231178006
  • Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome   771306007
  • Hereditary inclusion body myopathy type 4   770786001
  • Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome   724349009
  • Hereditary myopathy associated with hydrocephalus   53387004
  • Hereditary myopathy with early respiratory failure   702373006
  • Hereditary progressive muscular dystrophy   193225000
  • High bone mass osteogenesis imperfecta   782781006
  • Hirschsprung disease with nail hypoplasia and dysmorphism   721223002
  • Holt-Oram syndrome   19092004
  • Holzgreve syndrome   783159001
  • Horizontal gaze palsy with progressive scoliosis   702381007
  • Hunter McAlpine craniosynostosis syndrome   721227001
  • Huntington's chorea   58756001
  • Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome   721229003
  • Hydrocephalus, tall stature, joint laxity syndrome   732926009
  • Hypermobility syndrome   85551004
  • Hypertelorism Teebi type   724284005
  • Hypertelorism with microtia and facial clefting syndrome   721836009
  • Hypertelorism, preauricular sinus, punctual pits, deafness syndrome   773667003
  • Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000
  • Hypomandibular faciocranial dysostosis   721845005
  • Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009
  • Hypoplastic tibia and postaxial polydactyly syndrome   716741008
  • I-cell disease   70199000
  • Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome   771333006
  • Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome   1186654001
  • Inclusion body myopathy 2   702382000
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia   703544004
  • Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005
  • Infantile systemic hyalinosis   238867003
  • Intellectual disability, cataract, calcified pinna, myopathy syndrome   726709001
  • Intellectual disability, developmental delay, contracture syndrome   722456001
  • Intellectual disability, epilepsy, extrapyramidal syndrome   1187210007
  • Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome   1254652005
  • Intellectual disability, myopathy, short stature, endocrine defect syndrome   764959000
  • Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome   770755007
  • Intermediate nemaline myopathy   1197156008
  • Isolated osteopoikilosis   1231182008
  • Jackson-Weiss syndrome   709105005
  • Jarcho-Levin syndrome   61367005
  • Jeune thoracic dystrophy   75049004
  • Juberg Hayward syndrome   721874001
  • Juvenile hyaline fibromatosis   238861002
  • Karsch Neugebauer syndrome   722032005
  • Keipert syndrome   763774001
  • Keutel syndrome   724208006
  • King Denborough syndrome   764957003
  • Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome   1217225001
  • Kniest dysplasia   53974002
  • Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome   1172590009
  • Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome   1172591008
  • Larsen syndrome   63387002
  • Larsen-like syndrome B3GAT3 type   763778003
  • Laryngeal abductor paralysis with intellectual disability syndrome   724178000
  • Late-onset distal myopathy Markesbery Griggs type   770558006
  • Leri-Weill dyschondrosteosis   17818006
  • Lethal congenital contracture syndrome type 2   715419004
  • Lethal congenital contracture syndrome type 5   763346009
  • Lethal infantile mitochondrial myopathy   766251006
  • Lethal Kniest-like syndrome   93132001
  • Lethal Larsen-like syndrome   719409004
  • Lethal multiple pterygium syndrome   60192008
  • Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003
  • Lethal occipital encephalocele, skeletal dysplasia syndrome   773672007
  • Lethal recessive chondrodysplasia   719404009
  • Leukoencephalopathy with metaphyseal chondrodysplasia syndrome   719405005
  • Liebenberg syndrome   764437006
  • Lipodystrophy, intellectual disability, deafness syndrome   721973006
  • Lissencephaly syndrome Norman Roberts type   717977003
  • Lissencephaly type 3 metacarpal bone dysplasia syndrome   718720007
  • Long thumb brachydactyly syndrome   733454004
  • Lowry MacLean syndrome   721974000
  • MacDermot Winter syndrome   716023007
  • Macrocephaly, intellectual disability, left ventricular non compaction syndrome   1187642008
  • Macrostomia, preauricular tag, external ophthalmoplegia syndrome   723366001
  • Macular coloboma, cleft palate, hallux valgus syndrome   722463001
  • Majeed syndrome   703540008
  • Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008
  • Malignant hyperthermia with arthrogryposis and torticollis syndrome   719398004
  • Mammary digital nail syndrome   718679004
  • Mandibular hypoplasia, deafness, progeroid syndrome   773406003
  • Mandibuloacral dysostosis   109419009
  • Mannosidosis   65524005
  • Marshall-Smith syndrome   73284007
  • Maternally inherited mitochondrial cardiomyopathy   1187635008
  • Maternally inherited mitochondrial cardiomyopathy and myopathy   472320005
  • Maternally inherited mitochondrial myopathy   1187517009
  • Melorheostosis with osteopoikilosis   1197053003
  • Menkes kinky-hair syndrome   59178007
  • Mesomelic dysplasia Kantaputra type   719397009
  • Metabolic myopathy due to lactate transporter defect   766715000
  • Metachondromatosis   205481009
  • Metaphyseal chondrodysplasia, McKusick type   7720002
  • Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria   724146008
  • Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006
  • Metaphyseal dysplasia Braun Tinschert type   717221005
  • Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007
  • Microbrachycephaly, ptosis, cleft lip syndrome   723403008
  • Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002
  • Microcephalic osteodysplastic primordial dwarfism type II   1208348002
  • Microcephalic osteodysplastic primordial dwarfism types I and III   725461009
  • Microcephalus with brachydactyly and kyphoscoliosis syndrome   719378009
  • Microcephaly with cervical spine fusion anomaly   715462003
  • Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome   1254651003
  • Microspherophakia with metaphyseal dysplasia syndrome   724140002
  • Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis   715670004
  • Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form   1231309005
  • Mitochondrial DNA depletion syndrome encephalomyopathic form   765401006
  • Mitochondrial myopathy with reversible cytochrome C oxidase deficiency   784370005
  • Mitochondrial myopathy with sideroblastic anemia syndrome   724138007
  • Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome   1237514002
  • Mitochondrial neurogastrointestinal encephalomyopathy syndrome   718214007
  • Morava Mehes syndrome   719843001
  • Morquio syndrome   378007
  • Mucopolysaccharidosis-like plus disease   1187113001
  • Muenke syndrome   787407003
  • Multicentric carpotarsal osteolysis syndrome   766992008
  • Multicentric osteolysis nodulosis arthropathy spectrum   716868003
  • Multiple congenital anomalies, hypotonia, seizures syndrome   785303004
  • Multiple congenital exostosis   254044004
  • Multiple osteochondroma   716742001
  • Muscle AMP deaminase deficiency   9105005
  • Muscle and heart glycogen synthase deficiency   725027004
  • Muscle filaminopathy   764992006
  • Muscle L-lactate dehydrogenase deficiency   55783001
  • Muscle phosphoglycerate mutase deficiency   61772003
  • Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus   237611007
  • Muscular dystrophy Selcen type   723407009
  • Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome   773584001
  • MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome   1251451005
  • Myoclonic epilepsy with ragged red fibers   230426003
  • Myopathy due to calsequestrin and SERCA1 protein overload   724095006
  • Myopathy with deficiency of iron-sulfur cluster assembly enzyme   699268002
  • Myosclerosis   763895001
  • Myosin storage myopathy   699267007
  • Nail-patella syndrome   22199006
  • NARP syndrome   237984008
  • Nathalie syndrome   716170005
  • Native American myopathy   723439002
  • NEK9-related lethal skeletal dysplasia   1179299005
  • Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome   1186718008
  • Nestor Guillermo progeria syndrome   773331001
  • Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome   1217381009
  • Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008
  • Neurogenic scapuloperoneal syndrome Kaeser type   1208615009
  • Neutral lipid storage disease with myopathy   699315005
  • Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency   237988006
  • Nievergelt's syndrome   33979003
  • Non dystrophic myotonia   424795008
  • Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome   771308008
  • Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome   723442008
  • Oculocerebrodental syndrome   1255268002
  • Oculootoradial syndrome   722019000
  • Oliver syndrome   721017000
  • Omodysplasia   725164008
  • Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome   1222655009
  • Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome   722108000
  • Osteocraniostenosis   722109008
  • Osteofibrous dysplasia   1234828008
  • Osteogenesis imperfecta type 5   1003379004
  • Osteogenesis imperfecta type I   385482004
  • Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004
  • Osteogenesis imperfecta, type IV B   279309008
  • Osteopathia striata, pigmentary dermopathy, white forelock syndrome   787408008
  • Osteopenia, intellectual disability, sparse hair syndrome   732954002
  • Osteopetrosis   1926006
  • Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001
  • Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome   733064004
  • Osteosclerosis   49347007
  • Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000
  • Oto-onycho-peroneal syndrome   441944007
  • Otopalatodigital syndrome   767130007  removed: 2019-07-31
  • Otopalatodigital syndrome spectrum disorder   784010006
  • Otospondylomegaepiphyseal dysplasia   254060000
  • Pachydermoperiostosis syndrome   88220006
  • Pacman dysplasia   722127006
  • Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome   722207000
  • Papillon-Lefèvre syndrome   40158001
  • Parana hard skin syndrome   783013001
  • Parastremmatic dwarfism   722210007
  • Parietal foramina with clavicular hypoplasia   771338002
  • Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome   722211006
  • Patterson Stevenson Fontaine syndrome   724069009
  • Pelvis shoulder dysplasia   719298001
  • Pelviscapular dysplasia   719299009
  • Peripheral dysostosis   773985008
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome   782752005
  • Poikiloderma, alopecia, retrognathism, cleft palate syndrome   771186004
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy   702347001
  • Polydactyly of triphalangeal thumb   715710001
  • Polyglucosan body myopathy type 1   774148007
  • Polyglucosan body myopathy type 2   1228849007
  • Polyostotic fibrous dysplasia of bone   36517007
  • Postaxial polydactyly, dental, vertebral anomalies syndrome   773279006
  • Postaxial tetramelic oligodactyly   770946000
  • Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004
  • Potassium aggravated myotonia   702355008
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures   1172689007
  • Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009
  • Progressive myositis ossificans   82725007
  • Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome   1187303004
  • Proteus syndrome   23150001
  • Proximal myopathy with extrapyramidal signs   770722002
  • Prune belly syndrome   5187006
  • Pseudodiastrophic dysplasia   254058002
  • Pseudohypoparathyroidism type I A   58833000
  • Puerto Rican infant hypotonia syndrome   721887007
  • Pyknoachondrogenesis   719258003
  • Pyle metaphyseal dysplasia   27837003
  • Pyogenic arthritis, pyoderma gangrenosum, acne syndrome   724015007
  • QRICH1-related intellectual disability, chondrodysplasia syndrome   1220568003
  • Radial aplasia-thrombocytopenia syndrome   85589009
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001
  • Raine dysplasia   389239007
  • Reardon Hall Slaney syndrome   715471007
  • Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005
  • Reinhardt Pfeiffer mesomelic dysplasia   715472000
  • Retinal detachment and occipital encephalocele   703542000
  • Rhizomelic chondrodysplasia punctata syndrome   56692003
  • Rhizomelic syndrome Urbach type   770948004
  • RHYNS syndrome   723999009
  • Richieri Costa-da Silva syndrome   782941005
  • Robinow syndrome   76520005
  • Roifman syndrome   773404000
  • Rolland-Debuqois syndrome   95243004
  • Saethre-Chotzen syndrome   83015004
  • Saito Kuba Tsuruta syndrome   716094008
  • Saldino-Mainzer dysplasia   254092004
  • SCARF syndrome   734173003
  • Schimke immuno-osseous dysplasia   723995003
  • Schmitt Gillenwater Kelly syndrome   716092007
  • Scholte syndrome   722002002
  • Schwartz-Jampel syndrome   29145002
  • Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome   722114007
  • Seckel syndrome   57917004
  • Seizures, scoliosis, macrocephaly syndrome   1187250005
  • Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome   717266001
  • Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004
  • Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome   723676007
  • Severe myopia, generalized joint laxity, short stature syndrome   1217372003
  • Severe oculo-renal-cerebellar syndrome   1208341008
  • Severe X-linked mitochondrial encephalomyopathy   722212004
  • Severe X-linked myotubular myopathy   46804001
  • Short fifth metacarpal insulin resistance syndrome   721069005
  • Short rib polydactyly syndrome   205484001
  • Short stature locking fingers syndrome   726734001
  • Short stature with delayed bone age due to thyroid hormone metabolism deficiency   763890006
  • Short stature, advanced bone age, early-onset osteoarthritis syndrome   1197586007
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome   774155009
  • Short stature, brachydactyly, obesity, global developmental delay syndrome   1187277001
  • Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007
  • Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001
  • Short stature, pituitary and cerebellar defect and small sella turcica syndrome   721072003
  • Short tarsus with absence of lower eyelashes syndrome   721075001
  • Short ulna, dysmorphism, hypotonia, intellectual disability syndrome   773556006
  • Short-limb skeletal dysplasia with severe combined immunodeficiency   789777007
  • Shprintzen Goldberg craniosynostosis syndrome   719069008
  • Shwachman syndrome   89454001
  • Sialic storage disease   278991002
  • SIX2-related frontonasal dysplasia   1172632008
  • Skeletal dysplasia brachydactyly syndrome   733095006
  • Skeletal dysplasia with epilepsy and short stature syndrome   715428003
  • Skeletal dysplasia with intellectual disability syndrome   722478008
  • Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome   733468006
  • Smith McCort dysplasia   715862006
  • Spastic paraparesis and deafness   715504003
  • Spastic paraplegia with Paget disease of bone syndrome   726622002
  • Spheroid body myopathy   765092004
  • Splenogonadal fusion, limb defect, micrognathia syndrome   726724005
  • Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome   732927000
  • Spondylo-megaepiphyseal-metaphyseal dysplasia   773693005
  • Spondylo-ocular syndrome   715653007
  • Spondylocamptodactyly syndrome   716231009
  • Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome   723610009
  • Spondyloenchondrodysplasia with immune dysregulation   703523004
  • Spondyloenchondromatosis   389268008
  • Spondyloepimetaphyseal dysplasia aggrecan type   719165004
  • Spondyloepimetaphyseal dysplasia anauxetic type   764460003
  • Spondyloepimetaphyseal dysplasia Genevieve type   773303005
  • Spondyloepimetaphyseal dysplasia Handigodu type   763885008
  • Spondyloepimetaphyseal dysplasia Irapa type   717330004
  • Spondyloepimetaphyseal dysplasia matrilin-3 type   719166003
  • Spondyloepimetaphyseal dysplasia Missouri type   719171005
  • Spondyloepimetaphyseal dysplasia PAPSS2 type   719172003
  • Spondyloepimetaphyseal dysplasia Shohat type   719201004
  • Spondyloepimetaphyseal dysplasia with joint laxity Beighton type   1286833006
  • Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type   1286834000
  • Spondyloepimetaphyseal dysplasia with multiple dislocations   766820007
  • Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome   773302000
  • Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome   773300008
  • Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome   766821006
  • Spondyloepiphyseal dysplasia Cantu type   718765003
  • Spondyloepiphyseal dysplasia Kimberley type   719203001
  • Spondyloepiphyseal dysplasia MacDermot type   718763005
  • Spondyloepiphyseal dysplasia Maroteaux type   719204007
  • Spondyloepiphyseal dysplasia Reardon type   718764004
  • Spondyloepiphyseal dysplasia Stanescu type   1228860003
  • Spondyloepiphyseal dysplasia tarda   51952004
  • Spondyloepiphyseal dysplasia with congenital joint dislocations   702400006
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002
  • Spondylometaphyseal dysplasia   784006008
  • Spondyloperipheral dysplasia   702339001
  • Steel syndrome   1197589000
  • Sterile multifocal osteomyelitis with periostitis and pustulosis   773702002
  • Stewart-Morel-Morgagni syndrome   782167001
  • Stickler syndrome   78675000
  • Stickler syndrome type 3   783097004
  • Sugarman brachydactyly   1187132007
  • Summitt syndrome   733606001
  • Symphalangism Cushing type   1162837001
  • Symphalangism with multiple anomalies of hands and feet syndrome   732955001
  • Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome   783553008
  • Tall stature, scoliosis, macrodactyly of great toe syndrome   770788000
  • Talo-patello-scaphoid osteolysis syndrome   723580007
  • Tarsal-carpal coalition syndrome   702312009
  • Teebi Shaltout syndrome   771265006
  • Tel Hashomer camptodactyly syndrome   719946008
  • Temtamy preaxial brachydactyly syndrome   777998000
  • Temtamy syndrome   719947004
  • Tetramelic monodactyly   770945001
  • Thickened earlobe with conductive deafness syndrome   722476007
  • Thoracic dysplasia and hydrocephalus syndrome   782951006
  • Thoracolaryngopelvic dysplasia   723556008
  • Thoracomelic dysplasia   783003009
  • Thrombocythemia with distal limb defect   771511005
  • Thumb stiffness, brachydactyly, intellectual disability syndrome   733117001
  • Tibial aplasia and ectrodactyly syndrome   715531000
  • TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006
  • Torticollis, keloids, cryptorchidism, renal dysplasia syndrome   771266007
  • Treacher Collins syndrome   82203000
  • Trichorhinophalangeal syndrome type 1 and 3   818959006
  • Trigonocephaly with bifid nose and acral anomaly syndrome   719948009
  • Trigonocephaly with broad thumb syndrome   719949001
  • Trigonocephaly, short stature, developmental delay syndrome   733066002
  • Triopia   1285322008
  • Triphalangeal thumb and dislocation of patella syndrome   733456002
  • Triphalangeal thumb and polysyndactyly syndrome   719950001
  • Triphalangeal thumb with brachyectrodactyly syndrome   719951002
  • Typical nemaline myopathy   1197153000
  • Ulna metaphyseal dysplasia syndrome   715242008
  • Upington disease   719041000
  • Urban Rogers Meyer syndrome   716334004
  • Van den Bosch syndrome   733110004
  • Velofacioskeletal syndrome   763616002
  • Vitamin D-dependent rickets   68295002
  • White forelock with malformations syndrome   763619009
  • Whyte Hemingway carpal tarsal phalangeal osteolyses   389274008
  • X-linked calvarial hyperostosis   782786001
  • X-linked dominant chondrodysplasia Chassaing Lacombe type   719837003
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome   719157002
  • X-linked intellectual disability with ataxia and apraxia syndrome   718845002
  • X-linked intellectual disability with cubitus valgus and dysmorphism syndrome   719138006
  • X-linked intellectual disability with plagiocephaly syndrome   719812008
  • X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome   1217228004
  • X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome   732246009
  • X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome   1172692006
  • X-linked mandibulofacial dysostosis   719813003
  • X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome   1197588008
  • X-linked myopathy with excessive autophagy   719815005
  • X-linked osteoporosis with fractures   782785002
  • X-linked parkinsonism with spasticity syndrome   770757004
  • X-linked spasticity, intellectual disability, epilepsy syndrome   725163002
  • X-linked spondyloepimetaphyseal dysplasia   770603000
  • Zechi Ceide syndrome   773307006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of musculoskeletal system   363212003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003

ancestors
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cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

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